Article

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Caused by CLDN16/CLDN19 Mutations in Four Chinese Families

2025-09-17

Abstract excerpt

<title>Abstract</title> <p>Background Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubulopathy caused by mutations in the <italic>CLDN16</italic> or <italic>CLDN19</italic> genes, patients usually develop hypomagnesemia, hypercalciuria, nephrocalcinosis and renal failure early in life, and those with <italic>CLDN19</italic> gene mutations have ocular find...

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Literature Corpus work: deceb3a4-ecd3-5296-87f8-c94a17249d03
DOI: 10.21203/rs.3.rs-7527652/v1

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